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Term:Koolen de Vries syndrome
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Accession:DOID:0050880 term browser browse the term
Definition:A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (DO)
Synonyms:exact_synonym: 17q21.31 deletion syndrome;   17q21.31 microdeletion syndrome;   Chromosome 17q21.31 Deletion Syndrome;   Chromosome 17q21.31 Microdeletion Syndrome;   KANSL1-related intellectual disability syndrome;   KDVS;   Koolen syndrome;   monosomy 17q21.31
 primary_id: MESH:C566476
 alt_id: DOID:0070076;   OMIM:610443;   RDO:0014820
 xref: GARD:10727;   ORDO:96169
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Koolen de Vries syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kansl1 KAT8 regulatory NSL complex subunit 1 JBrowse link 10 92,388,045 92,517,449 RGD:8554872
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15610
    syndrome 5800
      chromosomal deletion syndrome 607
        Koolen de Vries syndrome 2
Path 2
Term Annotations click to browse term
  disease 15610
    disease of anatomical entity 14968
      nervous system disease 10400
        central nervous system disease 8547
          brain disease 7903
            disease of mental health 5644
              developmental disorder of mental health 2819
                specific developmental disorder 1980
                  intellectual disability 1803
                    non-syndromic intellectual disability 190
                      autosomal dominant non-syndromic intellectual disability 110
                        Koolen de Vries syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.